Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Keith Choate"'
Autor:
Matthew Hunt, Nuoqi Wang, Naricha Pupinyo, Philip Curman, Monica Torres, William Jebril, Maria Chatzinikolaou, Julie Lorent, Gilad Silberberg, Ritu Bansal, Teresa Burner, Jing Zhou, Susanne Kimeswenger, Wolfram Hoetzenecker, Keith Choate, Etty Bachar-Wikstrom, Jakob D Wikstrom
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 9, Pp 1986-2001 (2024)
Abstract Darier disease (DD) is a rare severe acantholytic skin disease caused by mutations in the ATP2A2 gene that encodes for the sarco/endoplasmic reticulum calcium ATPase isoform 2 (SERCA2). SERCA2 maintains endoplasmic reticulum calcium homeosta
Externí odkaz:
https://doaj.org/article/b20f15a21d914c2e8a2d537249034dd9
Autor:
Emily Hong, BS, Ronghua Hu, MD, Alba Posligua, MD, Keith Choate, MD, PhD, John R. Durkin, MD, MBA
Publikováno v:
JAAD Case Reports, Vol 31, Iss , Pp 93-96 (2023)
Externí odkaz:
https://doaj.org/article/df7f5181d2fd432e9bb1def1480d1cde
Autor:
Qisi Sun, MD, Jeff R. Gehlhausen, MD, PhD, Marianna Freudzon, MD, Nour Kibbi, MD, Allen Bale, MD, Keith Choate, MD, PhD, Mary Tomayko, MD, PhD, Ian Odell, MD, PhD, Sarika Ramachandran, MD
Publikováno v:
JAAD Case Reports, Vol 18, Iss , Pp 61-63 (2021)
Externí odkaz:
https://doaj.org/article/8d1bcfcd8f05413dbbd18ab0fef49200
Autor:
Young Lim, PhD, Arash Fereydooni, MD, MS, Anand Brahmandam, MD, Alan Dardik, MD, PhD, Keith Choate, MD, PhD, Naiem Nassiri, MD
Publikováno v:
Journal of Vascular Surgery Cases and Innovative Techniques, Vol 6, Iss 3, Pp 438-442 (2020)
Anomalous marginal veins of the trunk or extremities are congenitally incompetent entities found in association with phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth syndromes, such as Klippel-Trénau
Externí odkaz:
https://doaj.org/article/87c5d5ccf3564b3fa6083d4996d7d70e
Autor:
Maiko Sasaki, Yoonhee Jung, Paula North, Justin Elsey, Keith Choate, Michael Andrew Toussaint, Christina Huang, Rakan Radi, Adam J. Perricone, Victor G. Corces, Jack L. Arbiser
Publikováno v:
Cancers, Vol 14, Iss 2, p 413 (2022)
GNAQ is mutated in vascular and melanocytic lesions, including vascular malformations and nevi. No in vivo model of GNAQ activation in endothelial cells has previously been described. We introduce mutant GNAQ into a murine endothelial cell line, MS1.
Externí odkaz:
https://doaj.org/article/630b303dd5e049b1b00f7b41fff9786a
Publikováno v:
F1000Research, Vol 8 (2019)
Vascular tumors are neoplasms of endothelial cells, a significant number of which present in childhood. Recent studies have examined the mutational landscape of many subtypes of vascular tumors, identifying mutations primarily within the Ras–mitoge
Externí odkaz:
https://doaj.org/article/dde26c36e55f4f67bfd5c7ea593f7bbe
Autor:
Theodore Zaki, Keith Choate
Publikováno v:
F1000Research, Vol 7 (2018)
The ichthyoses are a heterogeneous group of skin diseases characterized by localized or generalized scaling or both. Other common manifestations include palmoplantar keratoderma, erythroderma, recurrent infections, and hypohidrosis. Abnormal barrier
Externí odkaz:
https://doaj.org/article/6a6c97d3ad17438481e6c04288fbfc4c
Autor:
Katie A O’Connell, Morgan Schaefer, Lihi Atzmony, Ruth Ann Vleugels, Keith Choate, Avery H LaChance, Michelle S Min
Publikováno v:
British Journal of Dermatology. 188:800-816
Acquired cutis laxa (ACL) is a very rare dermatological condition with numerous proposed aetiologies. Herein, we report on 10 adult patients with ACL, three of which were found to have genetic mutations suggesting a genetic predisposition for the dev
Autor:
Jonathan Park, Keith Choate
Publikováno v:
Journal of Investigative Dermatology. 142:2306-2312
Mosaicism results from postzygotic alterations during embryogenesis leading to genetically distinct populations of cells within individuals and has been historically recognized by phenotypes with visible, often patterned manifestations. Before the ad
Publikováno v:
Dermatology online journal. 23(2)
IFAP syndrome is a rare autosomal recessive X-linked disease characterized by the triad of alopecia universalis, severe photophobia, and follicular ichthyosis. It is caused by loss of function of the gene MBTPS2. Its severity varies and there are onl